{"symbol":"PPOX","synonyms":["V290M","PPO"],"name":"protoporphyrinogen oxidase","description":"This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":5498,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5498","proteins":[{"symbol":"PPOX_HUMAN","href":"/api/1.0/protein/PPOX_HUMAN"}],"hgncRootFamilies":[]}